Changes

==Gene Overview==

==Gene Overview==

The ETV6 gene encodes one of 29 proteins in the  ETS family of transcription factors ( "ETS" is from "E26 transformation-specific" or "E-twenty-six"). The Etvs6 protein contains two functional domains: a N-terminal pointed (PNT) that is involved in protein-protein interactions with itself and other proteins, and a C-terminal, helix-loop-helix, DNA-binding domain (the ETS domain).  Normally, the Etv6 protein acts as a transcriptional repressor and tumor supressor [2].  Familial genetic studies have shown that the protein is required for hematopoiesis and hematologic and other malignancies [3, 4]. This gene is known to be involved in a large number of chromosomal rearrangements (over 30 fusion partners) associated with leukemia and congenital fibrosarcoma. ([https://www.ncbi.nlm.nih.gov/gene/2120 adapted from NCBI Gene description]).  In most translocations, the N-terminal PNT domain of ETV6 is fused to a partner gene and acts as an aggregator for other proteins for a variety of effects, including transcriptional repression (eg, EVT6-RUNX1) [1, 2] and constitutive activated tyrosine kinases (eg, ETV6-PDGFRB) [1].

The ''ETV6'' gene encodes one of 29 proteins in the  ETS family of transcription factors ("ETS" is from "E26 transformation-specific" or "E-twenty-six"). The Etvs6 protein contains two functional domains: a N-terminal pointed (PNT) that is involved in protein-protein interactions with itself and other proteins, and a C-terminal, helix-loop-helix, DNA-binding domain (the ETS domain).  Normally, the Etv6 protein acts as a transcriptional repressor and tumor supressor [2].  Familial genetic studies have shown that the protein is required for hematopoiesis and hematologic and other malignancies [3,4]. This gene is known to be involved in a large number of chromosomal rearrangements (over 30 fusion partners) associated with leukemia and congenital fibrosarcoma ([https://www.ncbi.nlm.nih.gov/gene/2120 adapted from NCBI Gene description]).  In most translocations, the N-terminal PNT domain of ''ETV6'' is fused to a partner gene and acts as an aggregator for other proteins for a variety of effects, including transcriptional repression (eg, EVT6-RUNX1) [1,2] and constitutively activated tyrosine kinases (eg, ETV6-PDGFRB) [1].

==Common Alteration Types==

==Common Alteration Types==